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A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid.

Endocrinology - 1 Apr 2010

Amendola Elena, Sanges Remo, Galvan Antonella, Dathan Nina, Manenti Giacomo, Ferrandino Giuseppe, Alvino Francesca Maria, Di Palma Tina, Scarfò Marzia, Zannini Mariastella, Dragani Tommaso A, De Felice Mario, Di Lauro Roberto

Abstract excerpt

We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a...

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Identifiers

PMID: 20160132
DOI: 10.1210/en.2009-1240

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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